A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12942445



Internal ID3708567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:118742625..118751206hg38UCSC Ensembl
Innerchr7:118742634..118751198hg38UCSC Ensembl
Outerchr7:118742617..118751215hg38UCSC Ensembl
chr7:118382679..118391260hg19UCSC Ensembl
Innerchr7:118382688..118391252hg19UCSC Ensembl
Outerchr7:118382671..118391269hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg388582
hg198582
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614744
Supporting Variants
SamplesHG03311
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12942445
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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