A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12848042



Internal ID4890325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75724222..75735439hg38UCSC Ensembl
chr7:75353540..75364757hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3811218
hg1911218
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613728
Supporting Variants
SamplesNA12413
Known GenesHIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12848042
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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