A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982119



Internal ID12627786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:28998605..30026105hg38UCSC Ensembl
Innerchr15:29290808..30318308hg19UCSC Ensembl
Innerchr15:27078100..28105600hg18UCSC Ensembl
Innerchr15:27078100..28105600hg17UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg381027501
hg191027501
hg181027501
hg171027501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751526
Supporting Variants
SamplesBEC_521
Known GenesAPBA2, FAM189A1, NDNL2, TJP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982119
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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