A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10751412



Internal ID6026481
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593302
Supporting Variants
SamplesNA19435
Known GenesSTK39
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10751412
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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