A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16310572



Internal ID6065245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:30433258..30451294hg38UCSC Ensembl
Innerchr21:30433268..30451284hg38UCSC Ensembl
Outerchr21:30433248..30451304hg38UCSC Ensembl
chr21:31805576..31823612hg19UCSC Ensembl
Innerchr21:31805586..31823602hg19UCSC Ensembl
Outerchr21:31805566..31823622hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3818037
hg1918037
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646830
Supporting Variants
SamplesNA19455
Known GenesKRTAP15-1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16310572
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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