A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9841149



Internal ID6466442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1695226..1749609hg38UCSC Ensembl
Innerchr1:1695726..1749109hg38UCSC Ensembl
Outerchr1:1694226..1750609hg38UCSC Ensembl
chr1:1626665..1681048hg19UCSC Ensembl
Innerchr1:1627165..1680548hg19UCSC Ensembl
Outerchr1:1625665..1682048hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3854384
hg1954384
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585013
Supporting Variants
SamplesHG04063
Known GenesCDK11A, CDK11B, MMP23A, SLC35E2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9841149
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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