A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12715690



Internal ID2717506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28970964..29086873hg38UCSC Ensembl
Innerchr7:28970964..29086873hg38UCSC Ensembl
Outerchr7:28970464..29087373hg38UCSC Ensembl
chr7:29010580..29126489hg19UCSC Ensembl
Innerchr7:29010580..29126489hg19UCSC Ensembl
Outerchr7:29010080..29126989hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38115910
hg19115910
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612679
Supporting Variants
SamplesHG02654
Known GenesCPVL, LOC100506497
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12715690
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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