A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9841025



Internal ID6466318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1670280..1751138hg38UCSC Ensembl
Innerchr1:1670780..1750638hg38UCSC Ensembl
Outerchr1:1669280..1752138hg38UCSC Ensembl
chr1:1601719..1682577hg19UCSC Ensembl
Innerchr1:1602219..1682077hg19UCSC Ensembl
Outerchr1:1600719..1683577hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3880859
hg1980859
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585010
Supporting Variants
SamplesHG02700
Known GenesCDK11A, CDK11B, MMP23A, SLC35E2, SLC35E2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9841025
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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