A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12972194



Internal ID5022891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131495934..131496703hg38UCSC Ensembl
Innerchr7:131495934..131496703hg38UCSC Ensembl
Outerchr7:131495650..131496947hg38UCSC Ensembl
chr7:131180693..131181462hg19UCSC Ensembl
Innerchr7:131180693..131181462hg19UCSC Ensembl
Outerchr7:131180409..131181706hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38770
hg19770
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615040
Supporting Variants
SamplesNA18516
Known GenesMKLN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12972194
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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