A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12864800



Internal ID3996343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:81154085..81156703hg38UCSC Ensembl
Innerchr7:81154101..81156688hg38UCSC Ensembl
Outerchr7:81154070..81156719hg38UCSC Ensembl
chr7:80783401..80786019hg19UCSC Ensembl
Innerchr7:80783417..80786004hg19UCSC Ensembl
Outerchr7:80783386..80786035hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg382619
hg192619
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613881
Supporting Variants
SamplesHG03646
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12864800
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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