A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989576



Internal ID12627767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:28926517..30062100hg38UCSC Ensembl
Innerchr15:29218720..30354303hg19UCSC Ensembl
Innerchr15:27006012..28141595hg18UCSC Ensembl
Innerchr15:27006012..28141595hg17UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg381135584
hg191135584
hg181135584
hg171135584
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989576
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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