A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12692841



Internal ID5347201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:19615637..19644132hg38UCSC Ensembl
Innerchr7:19615678..19644091hg38UCSC Ensembl
Outerchr7:19615596..19644173hg38UCSC Ensembl
chr7:19655260..19683755hg19UCSC Ensembl
Innerchr7:19655301..19683714hg19UCSC Ensembl
Outerchr7:19655219..19683796hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3828496
hg1928496
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612472
Supporting Variants
SamplesNA18878
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12692841
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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