A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593554



Internal ID6980878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181908890..181909561hg38UCSC Ensembl
Innerchr2:181908892..181909559hg38UCSC Ensembl
Outerchr2:181908888..181909563hg38UCSC Ensembl
chr2:182773617..182774288hg19UCSC Ensembl
Innerchr2:182773619..182774286hg19UCSC Ensembl
Outerchr2:182773615..182774290hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38672
hg19672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10787312, essv10787307, essv10787309, essv10787311, essv10787308, essv10787306, essv10787313, essv10787310, essv10787305
SamplesNA18745, HG00592, HG02122, HG00464, NA18939, HG02127, HG00407, HG02367, NA18623
Known GenesSSFA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593554
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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