A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12917663



Internal ID841528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:106793452..106794880hg38UCSC Ensembl
Innerchr7:106793509..106794824hg38UCSC Ensembl
Outerchr7:106793396..106794937hg38UCSC Ensembl
chr7:106433898..106435326hg19UCSC Ensembl
Innerchr7:106433955..106435270hg19UCSC Ensembl
Outerchr7:106433842..106435383hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg381429
hg191429
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614450
Supporting Variants
SamplesHG00437
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12917663
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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