A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670634



Internal ID9590053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108824397..108829337hg38UCSC Ensembl
chr1:109367019..109371959hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg384941
hg194941
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6029744, essv5574907, essv6442898, essv5597752, essv6048830, essv6215244, essv6337688, essv6372519, essv6146131, essv5754351, essv6332953, essv6540601, essv6532206, essv6312052, essv5750542, essv6335992, essv6242538, essv6229664, essv5732000, essv5808050, essv5753846, essv5864180, essv6350992, essv5938311, essv6283895, essv6526305, essv6272054, essv6422516, essv6107185, essv6386627, essv6206690, essv6454112, essv5627866, essv6297885, essv6249747, essv5832715, essv6012642, essv5548537, essv6357213, essv5857941, essv6336179, essv5921929, essv5522006, essv5750885
SamplesHG00231, HG01462, HG00100, NA18616, HG00654, NA19068, NA18563, NA18940, HG01070, NA18567, NA18618, NA19054, NA19079, NA19651, HG00148, HG00534, NA19075, NA18986, NA19725, NA20533, HG00464, HG01124, HG00629, HG00557, HG01149, HG01073, NA19655, NA18626, HG01101, NA18555, NA18559, NA20804, NA19010, HG00662, NA19085, NA18610, HG00342, NA19726, NA19080, NA18983, NA19755, NA18624, NA19065, NA20772
Known GenesAKNAD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670634
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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