A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615502



Internal ID6655701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152320471..152325394hg38UCSC Ensembl
Innerchr7:152320471..152325394hg38UCSC Ensembl
Outerchr7:152320140..152325685hg38UCSC Ensembl
chr7:152017556..152022479hg19UCSC Ensembl
Innerchr7:152017556..152022479hg19UCSC Ensembl
Outerchr7:152017225..152022770hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg384924
hg194924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13013860, essv13013852, essv13013853, essv13013848, essv13013851, essv13013850, essv13013855, essv13013858, essv13013849, essv13013856, essv13013857, essv13013859, essv13013854
SamplesHG00736, HG00111, HG00366, NA20755, HG00179, HG00174, NA20512, HG00365, NA20822, HG00379, HG00285, NA11829, HG01503
Known GenesKMT2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615502
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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