A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34340



Internal ID12643693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:21843979..22889658hg38UCSC Ensembl
Innerchr19:22026781..23072460hg19UCSC Ensembl
Innerchr19:21818621..22864300hg18UCSC Ensembl
Innerchr19:21818621..22864300hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg381045680
hg191045680
hg181045680
hg171045680
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978109, essv6978110, essv6978112, essv6987327, essv6987328, essv6978111
SamplesNA11839
Known GenesLOC100996349, LOC440518, ZNF208, ZNF257, ZNF43, ZNF492, ZNF676, ZNF729, ZNF98, ZNF99
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34340
Frequency
Sample Size771
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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