A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641733



Internal ID7028504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9111535..9112130hg38UCSC Ensembl
Innerchr18:9111567..9112098hg38UCSC Ensembl
Outerchr18:9111503..9112162hg38UCSC Ensembl
chr18:9111533..9112128hg19UCSC Ensembl
Innerchr18:9111565..9112096hg19UCSC Ensembl
Outerchr18:9111501..9112160hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38596
hg19596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15795703, essv15795711, essv15795687, essv15795704, essv15795688, essv15795678, essv15795681, essv15795708, essv15795691, essv15795697, essv15795698, essv15795705, essv15795692, essv15795672, essv15795710, essv15795702, essv15795677, essv15795713, essv15795700, essv15795673, essv15795695, essv15795689, essv15795701, essv15795699, essv15795707, essv15795694, essv15795693, essv15795706, essv15795675, essv15795680, essv15795696, essv15795670, essv15795709, essv15795683, essv15795682, essv15795679, essv15795690, essv15795671, essv15795712, essv15795674, essv15795669, essv15795684, essv15795685, essv15795676, essv15795686
SamplesHG03096, NA19028, NA19703, HG03449, HG03172, NA19920, NA18510, HG03074, HG03385, HG03091, HG03370, HG03224, HG02922, NA19404, HG03209, HG03556, HG03055, HG03394, NA19437, NA19707, NA19403, HG03457, HG03575, HG02497, HG03301, NA19461, HG03476, NA19452, HG02635, NA19436, HG02759, NA20276, NA19434, NA19380, NA19439, NA19428, HG02580, HG03432, NA19716, HG03279, HG02107, HG01055, HG03060, NA19116, NA19129
Known GenesNDUFV2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641733
Frequency
Sample Size2504
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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