A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10166349



Internal ID168165
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587707
Supporting Variants
SamplesNA19378
Known GenesKCNJ10, PIGM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10166349
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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