A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587707



Internal ID6975130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160027538..160037887hg38UCSC Ensembl
Innerchr1:160027538..160037887hg38UCSC Ensembl
Outerchr1:160027243..160038132hg38UCSC Ensembl
chr1:159997328..160007677hg19UCSC Ensembl
Innerchr1:159997328..160007677hg19UCSC Ensembl
Outerchr1:159997033..160007922hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg3810350
hg1910350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10166348, essv10166350, essv10166351, essv10166349
SamplesNA19378, NA19440, NA19435, NA19037
Known GenesKCNJ10, PIGM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587707
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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