A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599290



Internal ID6986338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196615195..196616380hg38UCSC Ensembl
Innerchr3:196615212..196616364hg38UCSC Ensembl
Outerchr3:196615179..196616397hg38UCSC Ensembl
chr3:196342066..196343251hg19UCSC Ensembl
Innerchr3:196342083..196343235hg19UCSC Ensembl
Outerchr3:196342050..196343268hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381186
hg191186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11308506, essv11308526, essv11308540, essv11308521, essv11308529, essv11308532, essv11308535, essv11308510, essv11308508, essv11308541, essv11308520, essv11308511, essv11308528, essv11308515, essv11308517, essv11308518, essv11308519, essv11308516, essv11308533, essv11308524, essv11308536, essv11308531, essv11308509, essv11308539, essv11308523, essv11308538, essv11308525, essv11308530, essv11308543, essv11308522, essv11308514, essv11308513, essv11308537, essv11308507, essv11308534, essv11308527, essv11308542, essv11308512
SamplesNA20882, HG01521, NA12842, NA12045, NA19819, HG00364, NA20864, HG04164, HG03490, HG03663, HG03629, HG00185, NA20759, HG00335, NA20869, HG03832, HG00253, HG03861, NA19091, HG00282, HG02793, HG00328, HG03990, HG01789, HG01612, NA20770, HG03021, HG00250, HG03660, HG01536, HG01791, HG00140, HG00240, HG02790, HG03488, HG01489, HG00372, NA20502
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599290
Frequency
Sample Size2504
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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