A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984990



Internal ID12983841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43199303..43315252hg38UCSC Ensembl
Innerchr19:43703455..43819404hg19UCSC Ensembl
Innerchr19:48395295..48511244hg18UCSC Ensembl
Innerchr19:48395295..48511244hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38115950
hg19115950
hg18115950
hg17115950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751795
Supporting Variants
SamplesSPC_29
Known GenesLOC284344, PSG4, PSG9
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984990
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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