A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12756041



Internal ID2757857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43129448..43129822hg38UCSC Ensembl
Innerchr7:43129454..43129816hg38UCSC Ensembl
Outerchr7:43129442..43129828hg38UCSC Ensembl
chr7:43169047..43169421hg19UCSC Ensembl
Innerchr7:43169053..43169415hg19UCSC Ensembl
Outerchr7:43169041..43169427hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612984
Supporting Variants
SamplesNA18552
Known GenesHECW1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12756041
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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