A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988446



Internal ID12625949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:22384342..24322835hg38UCSC Ensembl
Innerchr19:22567144..24505637hg19UCSC Ensembl
Innerchr19:22358984..24297477hg18UCSC Ensembl
Innerchr19:22358984..24297477hg17UCSC Ensembl
Cytoband19p11
Allele length
AssemblyAllele length
hg381938494
hg191938494
hg181938494
hg171938494
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751784
Supporting Variants
SamplesBEC_333
Known GenesHAVCR1P1, LOC100132815, LOC100996349, LOC440518, RPSAP58, ZNF254, ZNF492, ZNF675, ZNF681, ZNF724P, ZNF726, ZNF728, ZNF730, ZNF91, ZNF98, ZNF99
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988446
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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