A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646838



Internal ID7033581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:30603679..30614166hg38UCSC Ensembl
Innerchr21:30603679..30614166hg38UCSC Ensembl
Outerchr21:30603618..30614255hg38UCSC Ensembl
chr21:31975998..31986485hg19UCSC Ensembl
Innerchr21:31975998..31986485hg19UCSC Ensembl
Outerchr21:31975937..31986574hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3810488
hg1910488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16310630
SamplesHG03607
Known GenesKRTAP6-1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646838
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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