A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667187



Internal ID9586606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:127419537..127424443hg38UCSC Ensembl
Outerchr9:127419166..127424813hg38UCSC Ensembl
Innerchr9:130181816..130186722hg19UCSC Ensembl
Outerchr9:130181445..130187092hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg385648
hg195648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1376e199
Supporting Variantsessv6345163, essv6269587, essv5525030, essv5923405, essv6424840, essv5745390, essv5846313, essv6164353, essv5845484, essv6059996, essv6242465, essv6435711, essv5879141, essv5659442, essv6257197, essv6206287, essv6145523, essv5654979, essv5477286, essv6229412, essv6060552, essv5939030, essv6410000, essv6137249, essv5489315, essv6299779, essv6402881, essv6431798, essv6066630, essv5693933, essv6156476
SamplesNA18565, NA18561, NA18530, NA18616, NA18563, NA18595, NA18567, NA18611, NA18560, NA18617, NA18539, NA18613, NA18538, NA18534, NA18548, NA18537, NA18566, NA18553, NA18570, NA18634, NA18593, NA18541, NA18546, NA18542, NA18559, NA18564, NA18615, NA18609, NA18552, NA18549, NA18620
Known GenesZNF79
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667187
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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