A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751526



Internal ID12638392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:28724519..30687025hg38UCSC Ensembl
Innerchr15:28969665..30979228hg19UCSC Ensembl
Innerchr15:26768706..28766520hg18UCSC Ensembl
Innerchr15:26768706..28766520hg17UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg381962507
hg192009564
hg181997815
hg171997815
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989576, essv6982118, essv6982119, essv6989285
SamplesBEC_521
Known GenesAPBA2, ARHGAP11B, CHRFAM7A, DKFZP434L187, FAM189A1, GOLGA6L7P, GOLGA8H, GOLGA8J, GOLGA8T, LOC100288637, LOC100289656, LOC101059918, LOC646278, NDNL2, TJP1, ULK4P1, ULK4P2, ULK4P3, WHAMMP2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751526
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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