A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595028



Internal ID6635303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2385160..2386303hg38UCSC Ensembl
Innerchr3:2385160..2386303hg38UCSC Ensembl
Outerchr3:2384890..2386589hg38UCSC Ensembl
chr3:2426844..2427987hg19UCSC Ensembl
Innerchr3:2426844..2427987hg19UCSC Ensembl
Outerchr3:2426574..2428273hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg381144
hg191144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10899574, essv10899580, essv10899567, essv10899584, essv10899575, essv10899588, essv10899569, essv10899573, essv10899592, essv10899565, essv10899593, essv10899583, essv10899576, essv10899570, essv10899585, essv10899568, essv10899589, essv10899577, essv10899591, essv10899587, essv10899571, essv10899582, essv10899586, essv10899590, essv10899581, essv10899572, essv10899579, essv10899578, essv10899566
SamplesNA19794, HG02272, HG01961, NA18561, NA18625, NA12058, HG01809, NA18988, NA18967, HG04100, HG02312, HG00356, HG02130, NA19054, NA18949, NA18611, HG01932, HG02265, HG01867, NA19086, HG02397, HG00368, NA18573, NA19735, HG02133, HG00614, NA19779, HG02291, HG00171
Known GenesCNTN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595028
Frequency
Sample Size2504
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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