A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585010



Internal ID6625329
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9841026, essv9841027, essv9841025
SamplesNA19443, HG03858, HG02700
Known GenesCDK11A, CDK11B, MMP23A, SLC35E2, SLC35E2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585010
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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