A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590058



Internal ID6977386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:23596166..23600623hg38UCSC Ensembl
Innerchr2:23596166..23600623hg38UCSC Ensembl
Outerchr2:23595937..23600932hg38UCSC Ensembl
chr2:23819036..23823493hg19UCSC Ensembl
Innerchr2:23819036..23823493hg19UCSC Ensembl
Outerchr2:23818807..23823802hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg384458
hg194458
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10432565, essv10432569, essv10432571, essv10432572, essv10432567, essv10432570, essv10432568, essv10432566
SamplesHG03593, HG01586, HG03668, NA20903, HG02494, HG04159, NA21117, HG03012
Known GenesKLHL29
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590058
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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