A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627504



Internal ID7014333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:100923450..100925581hg38UCSC Ensembl
Innerchr11:100923450..100925581hg38UCSC Ensembl
Outerchr11:100923165..100925793hg38UCSC Ensembl
chr11:100794181..100796312hg19UCSC Ensembl
Innerchr11:100794181..100796312hg19UCSC Ensembl
Outerchr11:100793896..100796524hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg382132
hg192132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14251640, essv14251636, essv14251632, essv14251629, essv14251634, essv14251638, essv14251645, essv14251631, essv14251637, essv14251639, essv14251630, essv14251641, essv14251642, essv14251635, essv14251643, essv14251644, essv14251633
SamplesHG01885, HG02419, HG02476, NA19198, HG02703, NA19917, HG03212, HG03054, NA18516, NA18915, HG02144, HG02256, HG03028, NA19712, NA18865, NA18501, HG01082
Known GenesARHGAP42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627504
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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