A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12848228



Internal ID2050808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75797165..75809109hg38UCSC Ensembl
Innerchr7:75797665..75808609hg38UCSC Ensembl
Outerchr7:75796165..75810109hg38UCSC Ensembl
chr7:75426483..75438427hg19UCSC Ensembl
Innerchr7:75426983..75437927hg19UCSC Ensembl
Outerchr7:75425483..75439427hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3811945
hg1911945
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613740
Supporting Variants
SamplesHG01872
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12848228
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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