A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598385



Internal ID6985521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160516277..160517870hg38UCSC Ensembl
Innerchr3:160516279..160517869hg38UCSC Ensembl
Outerchr3:160516276..160517872hg38UCSC Ensembl
chr3:160234065..160235658hg19UCSC Ensembl
Innerchr3:160234067..160235657hg19UCSC Ensembl
Outerchr3:160234064..160235660hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg381594
hg191594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11199663, essv11199670, essv11199674, essv11199656, essv11199665, essv11199659, essv11199672, essv11199669, essv11199667, essv11199660, essv11199677, essv11199661, essv11199662, essv11199676, essv11199666, essv11199668, essv11199657, essv11199671, essv11199678, essv11199658, essv11199675, essv11199673, essv11199679, essv11199664
SamplesNA19131, NA19238, HG03195, NA19722, NA19025, NA18867, HG03169, NA19175, HG03547, NA19184, NA18871, NA19114, NA18912, NA19318, NA19160, NA19625, NA19017, NA18909, HG03565, NA18873, NA19430, NA19146, HG03198, HG03303
Known GenesKPNA4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598385
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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