A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779917



Internal ID18829324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:10912986..11111729hg38UCSC Ensembl
Innerchr7:10952613..11151356hg19UCSC Ensembl
Innerchr7:10919138..11117881hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38198744
hg19198744
hg18198744
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891051
Supporting Variants
Samples
Known GenesNDUFA4, PHF14
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=42
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779917
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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