A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639681



Internal ID7026459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1350707..1351529hg38UCSC Ensembl
Innerchr17:1350708..1351529hg38UCSC Ensembl
Outerchr17:1350707..1351530hg38UCSC Ensembl
chr17:1254001..1254823hg19UCSC Ensembl
Innerchr17:1254002..1254823hg19UCSC Ensembl
Outerchr17:1254001..1254824hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38823
hg19823
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15580884, essv15580885, essv15580871, essv15580868, essv15580865, essv15580882, essv15580888, essv15580879, essv15580875, essv15580870, essv15580886, essv15580874, essv15580872, essv15580887, essv15580880, essv15580877, essv15580878, essv15580883, essv15580866, essv15580876, essv15580889, essv15580867, essv15580873, essv15580890, essv15580881, essv15580869
SamplesHG00542, HG02072, HG02078, HG01802, HG00566, HG01853, HG02156, HG02521, HG02130, NA18642, HG03814, NA18985, NA18614, HG02047, HG00629, HG01867, HG01857, HG00475, HG00651, HG00684, HG00704, HG00607, NA19085, HG02133, HG01846, HG02410
Known GenesYWHAE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639681
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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