A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12949297



Internal ID2113535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:124284405..124296624hg38UCSC Ensembl
Innerchr7:124284405..124296624hg38UCSC Ensembl
Outerchr7:124284196..124296829hg38UCSC Ensembl
chr7:123924459..123936678hg19UCSC Ensembl
Innerchr7:123924459..123936678hg19UCSC Ensembl
Outerchr7:123924250..123936883hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg3812220
hg1912220
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614868
Supporting Variants
SamplesHG01921
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12949297
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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