A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891131



Internal ID18838841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:64342362..64450069hg38UCSC Ensembl
Outerchr7:64233851..64529722hg38UCSC Ensembl
Innerchr7:63802740..63910447hg19UCSC Ensembl
Outerchr7:63694229..63990100hg19UCSC Ensembl
Innerchr7:63440175..63547882hg18UCSC Ensembl
Outerchr7:63331664..63627535hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38295872
hg19295872
hg18295872
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25794766, essv25788583, essv25789708, essv25788586, essv25788659, essv25792299, essv25788514, essv25789196, essv25790650, essv25788598, essv25789011, essv25791913, essv25789317, essv25793044, essv25790253
Samples
Known GenesYWHAEP1, ZNF679, ZNF680, ZNF736
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891131
Frequency
Sample Size3017
Observed Gain14
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer