A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576948



Internal ID18705146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:80738327..80740794hg38UCSC Ensembl
InnerchrX:79993826..79996293hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg382468
hg192468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2322e212
Supporting Variantsessv9826565, essv9826590, essv9826568, essv9826609, essv9826584, essv9826578, essv9826594, essv9826560, essv9826564, essv9826573, essv9826595, essv9826563, essv9826603, essv9826582, essv9826604, essv9826591, essv9826585, essv9826574, essv9826570, essv9826580, essv9826596, essv9826569, essv9826600, essv9826598, essv9826583, essv9826601, essv9826592, essv9826602, essv9826567, essv9826571, essv9826606, essv9826561, essv9826572, essv9826597, essv9826607, essv9826559, essv9826608, essv9826605, essv9826593, essv9826587, essv9826562, essv9826576, essv9826589, essv9826575, essv9826581, essv9826586, essv9826579
Samples401420PJ, 400569WC, 400594VJ, 400876OG, 401460LW, 401498HH, 401783BD, 401434VN, 400627CC, 401842BJ, 400743LS, 400066MA, 401401BA, 400127MD, 401550SP, 400032RC, 400113LD, 401732HW, 401376RD, 400038CK, 401331LJ, 401870FB, 401084TD, 401863BD, 400783MJ, 401125LM, 401119DK, 401652HL, 400758KP, 400844GP, 400171BJ, 400869BK, 400278PD, 401587RC, 401369GR, 401200BD, 401307VR, 401176BD, 401359HF, 400430KV, 400837HN, 400158FB, 400677HD, 400410CD, 400312CR, 400942HR, 401362ME
Known GenesBRWD3
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3576948
Frequency
Sample Size873
Observed Gain47
Observed Loss0
Observed Complex0
Frequencyn/a


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