A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985665



Internal ID12625946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:22482558..24321158hg38UCSC Ensembl
Innerchr19:22665360..24503960hg19UCSC Ensembl
Innerchr19:22457200..24295800hg18UCSC Ensembl
Innerchr19:22457200..24295800hg17UCSC Ensembl
Cytoband19p11
Allele length
AssemblyAllele length
hg381838601
hg191838601
hg181838601
hg171838601
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, ZNF99
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985665
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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