A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6237n54



Internal ID20139661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6895855..7112582hg38UCSC Ensembl
chr19:6895866..7112593hg19UCSC Ensembl
chr19:6846866..7063593hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38216728
hg19216728
hg18216728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv578470, nsv578469, nsv578466, nsv578465, nsv578468, nsv578472
SamplesHGDP00160, NINDS_231, NINDS_236, 1780854184_A
Known GenesEMR1, EMR4P, FLJ25758, INSR, MBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6237n54
Frequency
Sample Size17421
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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