A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9948152



Internal ID6573445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61794260..61798028hg38UCSC Ensembl
Innerchr1:61794281..61798007hg38UCSC Ensembl
Outerchr1:61794239..61798049hg38UCSC Ensembl
chr1:62259932..62263700hg19UCSC Ensembl
Innerchr1:62259953..62263679hg19UCSC Ensembl
Outerchr1:62259911..62263721hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383769
hg193769
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586222
Supporting Variants
SamplesNA19777
Known GenesINADL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9948152
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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