A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12748626



Internal ID1176602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39418600..39425097hg38UCSC Ensembl
Innerchr7:39418600..39425097hg38UCSC Ensembl
Outerchr7:39418100..39425597hg38UCSC Ensembl
chr7:39458199..39464696hg19UCSC Ensembl
Innerchr7:39458199..39464696hg19UCSC Ensembl
Outerchr7:39457699..39465196hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg386498
hg196498
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612907
Supporting Variants
SamplesHG01055
Known GenesPOU6F2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12748626
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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