A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12688172



Internal ID2689988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16391719..16441969hg38UCSC Ensembl
chr7:16431344..16481594hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3850251
hg1950251
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612396
Supporting Variants
SamplesHG03446
Known GenesISPD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12688172
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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