A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665368



Internal ID9584787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46868640..47075146hg38UCSC Ensembl
Outerchr10:46868270..47075517hg38UCSC Ensembl
Innerchr10:48664216..48870722hg19UCSC Ensembl
Outerchr10:48663845..48871092hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38207248
hg19207248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv136e199
Supporting Variantsessv5965786, essv5677977, essv6520483, essv6556032, essv5426929, essv5723154, essv5877093, essv6386315, essv5713327, essv6030192, essv5950213, essv6401105, essv5461831, essv5539098, essv5667368, essv6121966, essv5862885, essv5494152, essv6416458, essv5732644, essv5590835, essv6576269, essv5990807, essv5978649, essv5790988, essv5846827, essv5783099, essv5984212, essv5961804, essv5812303, essv5396659, essv5966367, essv6546903, essv6246647, essv6177595, essv6594370, essv5472502, essv6152630, essv5641317, essv6413600, essv6350530, essv5642676, essv5450714, essv5457009, essv5637390, essv5872214, essv6523400, essv5820444, essv5618570, essv6191712, essv5710453, essv5550897, essv5926936, essv5557528, essv5615790, essv6302118, essv6577304, essv6276075, essv6437084, essv5805593, essv6260892, essv5402525, essv6112860, essv5473707, essv6030410, essv5548271, essv6421451, essv5710677, essv6123598, essv5789330, essv6445967, essv6283057, essv6383821, essv6347345, essv5747994
SamplesNA18621, NA18592, NA18565, NA18561, NA18599, NA18603, NA18545, NA18606, NA18616, NA18526, NA18633, NA18602, NA18627, NA18563, NA18550, NA18597, NA18595, NA18635, NA18567, NA18558, NA18547, NA18618, NA18582, NA18571, NA18611, NA18560, NA18557, NA18539, NA18638, NA18614, NA18544, NA18605, NA18613, NA18538, NA18637, NA18579, NA18572, NA18534, NA18630, NA18548, NA18537, NA18566, NA18573, NA18626, NA18532, NA18553, NA18555, NA18536, NA18570, NA18634, NA18593, NA18576, NA18546, NA18608, NA18632, NA18542, NA18535, NA18543, NA18559, NA18564, NA18628, NA18615, NA18610, NA18631, NA18636, NA18609, NA18552, NA18624, NA18623, NA18612, NA18549, NA18622, NA18562, NA18577, NA18620
Known GenesFRMPD2P1, PTPN20A, PTPN20B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665368
Frequency
Sample Size1151
Observed Gain0
Observed Loss75
Observed Complex0
Frequencyn/a


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