A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12717352



Internal ID3013530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:29632816..29796992hg38UCSC Ensembl
chr7:29672432..29836608hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38164177
hg19164177
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612697
Supporting Variants
SamplesHG02654
Known GenesDPY19L2P3, LOC646762, MIR550A3, ZNRF2P2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12717352
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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