A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587640



Internal ID6975062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156702192..156702947hg38UCSC Ensembl
Innerchr1:156702193..156702946hg38UCSC Ensembl
Outerchr1:156702191..156702948hg38UCSC Ensembl
chr1:156671984..156672739hg19UCSC Ensembl
Innerchr1:156671985..156672738hg19UCSC Ensembl
Outerchr1:156671983..156672740hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38756
hg19756
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10153228, essv10153223, essv10153229, essv10153225, essv10153230, essv10153224, essv10153227, essv10153231, essv10153226
SamplesHG00189, NA11995, HG00233, HG00335, NA19707, HG01630, NA11893, NA19818, HG00105
Known GenesCRABP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587640
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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