A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12972768



Internal ID5409561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:132018178..132020094hg38UCSC Ensembl
Innerchr7:132018178..132020094hg38UCSC Ensembl
Outerchr7:132017873..132020480hg38UCSC Ensembl
chr7:131702937..131704853hg19UCSC Ensembl
Innerchr7:131702937..131704853hg19UCSC Ensembl
Outerchr7:131702632..131705239hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg381917
hg191917
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615053
Supporting Variants
SamplesNA18947
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12972768
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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