A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984582



Internal ID12630542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56477018..57208126hg38UCSC Ensembl
Innerchr7:56544711..57275833hg19UCSC Ensembl
Innerchr7:56512205..57279775hg18UCSC Ensembl
Innerchr7:56318920..57086490hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38731109
hg19731123
hg18767571
hg17767571
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752160
Supporting Variants
SamplesBEC_720
Known GenesDKFZp434L192, GUSBP10, LOC100130849, LOC100240728, LOC101928401, MIR4283-1, MIR4283-2, ZNF479
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984582
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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