A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12715649



Internal ID2717465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28661067..28666766hg38UCSC Ensembl
Innerchr7:28661105..28666728hg38UCSC Ensembl
Outerchr7:28661029..28666804hg38UCSC Ensembl
chr7:28700684..28706383hg19UCSC Ensembl
Innerchr7:28700722..28706345hg19UCSC Ensembl
Outerchr7:28700646..28706421hg19UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg385700
hg195700
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612676
Supporting Variants
SamplesHG02716
Known GenesCREB5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12715649
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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