A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12715885



Internal ID2717701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28997136..29209454hg38UCSC Ensembl
chr7:29036752..29249070hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38212319
hg19212319
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612685
Supporting Variants
SamplesHG02654
Known GenesCHN2, CPVL, LOC100506497
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12715885
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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