A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670156



Internal ID9589575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7928998..7931804hg38UCSC Ensembl
Outerchr17:7928627..7932174hg38UCSC Ensembl
Innerchr17:7832316..7835122hg19UCSC Ensembl
Outerchr17:7831945..7835492hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg383548
hg193548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6394113, essv6455139, essv6126958, essv6038401, essv6249186, essv5673519, essv6091576, essv5794569, essv6187463, essv6516462, essv6096888, essv6548231, essv5653540, essv5922262, essv6009353, essv5927512, essv6303726, essv6024974, essv6139576, essv5629955, essv6286660, essv5746688, essv5591879, essv5707133, essv5777020, essv6503367, essv5961577
SamplesHG00626, HG00403, HG00536, HG00608, HG00501, HG00689, HG00448, HG00634, HG00610, HG00590, HG00512, HG00683, HG00427, HG00530, HG00464, HG00629, HG00557, HG00428, HG00475, HG00556, HG00533, HG00404, HG00479, HG00525, HG00611, HG00620, HG00656
Known GenesCNTROB, KCNAB3, TRAPPC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670156
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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