A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12671440



Internal ID4002473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4425942..4569355hg38UCSC Ensembl
Innerchr7:4426442..4568855hg38UCSC Ensembl
Outerchr7:4424942..4570355hg38UCSC Ensembl
chr7:4465573..4608986hg19UCSC Ensembl
Innerchr7:4466073..4608486hg19UCSC Ensembl
Outerchr7:4464573..4609986hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38143414
hg19143414
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611929
Supporting Variants
SamplesHG03652
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12671440
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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