A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12757573



Internal ID5894107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45792907..45810281hg38UCSC Ensembl
Innerchr7:45792907..45810281hg38UCSC Ensembl
Outerchr7:45792407..45810781hg38UCSC Ensembl
chr7:45832506..45849880hg19UCSC Ensembl
Innerchr7:45832506..45849880hg19UCSC Ensembl
Outerchr7:45832006..45850380hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3817375
hg1917375
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613031
Supporting Variants
SamplesNA19315
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12757573
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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