A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620450



Internal ID6660632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:39089692..39125236hg38UCSC Ensembl
chr9:39089689..39125233hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3835545
hg1935545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13468668, essv13468678, essv13468663, essv13468669, essv13468682, essv13468688, essv13468689, essv13468683, essv13468676, essv13468664, essv13468684, essv13468667, essv13468672, essv13468671, essv13468661, essv13468674, essv13468675, essv13468673, essv13468662, essv13468679, essv13468681, essv13468677, essv13468685, essv13468666, essv13468670, essv13468665, essv13468680, essv13468687, essv13468686
SamplesHG00537, NA18975, HG04159, HG01858, HG00879, HG01031, NA18948, HG02887, HG02379, HG00404, HG01844, HG00699, HG01812, HG02142, HG00692, HG00121, NA18592, HG00436, HG02392, HG02127, HG01872, HG00663, HG00448, NA12878, HG00656, HG00708, HG01808, HG02391, NA18553
Known GenesCNTNAP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620450
Frequency
Sample Size2504
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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