A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12701330



Internal ID1151113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23035201..23041834hg38UCSC Ensembl
Innerchr7:23035251..23041784hg38UCSC Ensembl
Outerchr7:23035099..23041936hg38UCSC Ensembl
chr7:23074820..23081453hg19UCSC Ensembl
Innerchr7:23074870..23081403hg19UCSC Ensembl
Outerchr7:23074718..23081555hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg386634
hg196634
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612532
Supporting Variants
SamplesHG01028
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12701330
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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