A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635422



Internal ID7022221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96364866..96366338hg38UCSC Ensembl
Innerchr14:96364877..96366328hg38UCSC Ensembl
Outerchr14:96364856..96366349hg38UCSC Ensembl
chr14:96831203..96832675hg19UCSC Ensembl
Innerchr14:96831214..96832665hg19UCSC Ensembl
Outerchr14:96831193..96832686hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381473
hg191473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15103548, essv15103549, essv15103547, essv15103550, essv15103545, essv15103558, essv15103553, essv15103562, essv15103563, essv15103564, essv15103552, essv15103554, essv15103557, essv15103561, essv15103560, essv15103546, essv15103555, essv15103551, essv15103556, essv15103544, essv15103559
SamplesHG00114, HG01624, HG01610, HG01188, HG02266, HG00334, NA11930, HG00232, HG01673, HG00178, HG01879, NA19982, NA11894, HG01791, HG01101, HG01679, HG03694, HG00375, HG01606, HG00105, HG01377
Known GenesGSKIP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635422
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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