A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594610



Internal ID6981930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230699710..230702938hg38UCSC Ensembl
Innerchr2:230699710..230702938hg38UCSC Ensembl
Outerchr2:230699455..230703298hg38UCSC Ensembl
chr2:231564425..231567653hg19UCSC Ensembl
Innerchr2:231564425..231567653hg19UCSC Ensembl
Outerchr2:231564170..231568013hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383229
hg193229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10875206, essv10875217, essv10875194, essv10875208, essv10875213, essv10875223, essv10875202, essv10875204, essv10875216, essv10875214, essv10875196, essv10875192, essv10875218, essv10875189, essv10875219, essv10875207, essv10875212, essv10875188, essv10875205, essv10875197, essv10875201, essv10875195, essv10875220, essv10875221, essv10875190, essv10875199, essv10875222, essv10875191, essv10875215, essv10875211, essv10875193, essv10875200, essv10875210, essv10875224, essv10875198, essv10875209, essv10875203
SamplesHG02944, HG03378, HG03517, HG02836, NA18504, HG03135, HG02756, NA19131, HG03105, HG03479, HG01242, NA19923, HG02634, HG02882, HG03054, HG02322, HG03428, HG02307, NA18910, HG02976, NA19118, HG03397, HG03567, HG02799, HG02501, HG02983, NA20351, NA20281, HG03565, HG02974, NA18873, HG02013, NA19213, HG03401, HG02763, NA19129, HG03196
Known GenesLOC151475
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594610
Frequency
Sample Size2504
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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