A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693356



Internal ID15116441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10311675..10312973hg38UCSC Ensembl
Innerchr2:10311973..10312675hg38UCSC Ensembl
Outerchr2:10310675..10313973hg38UCSC Ensembl
chr2:10451801..10453099hg19UCSC Ensembl
Innerchr2:10452099..10452801hg19UCSC Ensembl
Outerchr2:10450801..10454099hg19UCSC Ensembl
chr2:10369252..10370550hg18UCSC Ensembl
Innerchr2:10370252..10369550hg18UCSC Ensembl
Outerchr2:10368252..10371550hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3395574
Supporting Variants
SamplesNA19240
Known GenesHPCAL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693356
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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