A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12826599



Internal ID2068179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:68535295..68542629hg38UCSC Ensembl
Innerchr7:68535445..68542479hg38UCSC Ensembl
Outerchr7:68535145..68542779hg38UCSC Ensembl
chr7:68000282..68007616hg19UCSC Ensembl
Innerchr7:68000432..68007466hg19UCSC Ensembl
Outerchr7:68000132..68007766hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg387335
hg197335
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613575
Supporting Variants
SamplesHG01882
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12826599
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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