A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10264971



Internal ID6508547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201011697..201016356hg38UCSC Ensembl
Innerchr1:201011697..201016356hg38UCSC Ensembl
Outerchr1:201011540..201016449hg38UCSC Ensembl
chr1:200980825..200985484hg19UCSC Ensembl
Innerchr1:200980825..200985484hg19UCSC Ensembl
Outerchr1:200980668..200985577hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384660
hg194660
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588567
Supporting Variants
SamplesNA20536
Known GenesKIF21B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10264971
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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