A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984646



Internal ID12636593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31394533..31498018hg38UCSC Ensembl
Innerchr6:31362310..31465795hg19UCSC Ensembl
Innerchr6:31470289..31573774hg18UCSC Ensembl
Innerchr6:31470289..31573774hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38103486
hg19103486
hg18103486
hg17103486
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752121
Supporting Variants
SamplesSPC_162
Known GenesHCG26, HCP5, MICA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984646
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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