A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612632



Internal ID6999532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:26208621..26212092hg38UCSC Ensembl
Innerchr7:26208771..26211942hg38UCSC Ensembl
Outerchr7:26208471..26212242hg38UCSC Ensembl
chr7:26248241..26251712hg19UCSC Ensembl
Innerchr7:26248391..26251562hg19UCSC Ensembl
Outerchr7:26248091..26251862hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg383472
hg193472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12710510, essv12710509, essv12710511
SamplesHG00114, HG00142, NA18977
Known GenesCBX3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612632
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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