A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593302



Internal ID6980626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167988767..167992308hg38UCSC Ensembl
Innerchr2:167988797..167992278hg38UCSC Ensembl
Outerchr2:167988737..167992338hg38UCSC Ensembl
chr2:168845277..168848818hg19UCSC Ensembl
Innerchr2:168845307..168848788hg19UCSC Ensembl
Outerchr2:168845247..168848848hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383542
hg193542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10751413, essv10751412
SamplesNA19435, NA19468
Known GenesSTK39
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593302
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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