A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983815



Internal ID12629277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:47994483..48083562hg38UCSC Ensembl
InnerchrX:47853884..47942931hg19UCSC Ensembl
InnerchrX:47738828..47827875hg18UCSC Ensembl
InnerchrX:47610138..47699185hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3889080
hg1989048
hg1889048
hg1789048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752324
Supporting Variants
SamplesBEC_629
Known GenesSPACA5, SPACA5B, ZNF182, ZNF630
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983815
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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