A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv36n17



Internal ID20131602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27486051..27506870hg38UCSC Ensembl
chr12:27638984..27659803hg19UCSC Ensembl
chr12:27530251..27551070hg18UCSC Ensembl
chr12:27530251..27551070hg16UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3820820
hg1920820
hg1820820
hg1620820
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv437733, nsv437736, nsv437737, nsv437734
SamplesNA19173, NA19154, NA18857, NA19240
Known GenesSMCO2
MethodSNP array
AnalysisOur algorithm aims to detect deletions that are transmitted from a hemizygous parent to a child. For each trio, every SNP was coded into one of seven categories: (A) Type I mendelian incompatibility (that is, consistent with deletion) involving mother; (B) Type I mendelian incompatibility involving father; (C) Type II mendelian incompatibility (that is, inconsistent with deletion); (D) child homozygous or missing data, both parents homozygous or missing data; (E) child homozygous or missing data, father heterozygous, mother homozygous or missing data; (F) child homozygous or missing data, mother heterozygous, father homozygous or missing data; (G) child heterozygous or both parents heterozygous (see Supplementary Methods for further details). SNPs were assigned to states D-G only if they did not contain mendelian incompatibilities. A run of consecutive SNPs in a particular trio was considered to be consistent with a maternal transmitted deletion if all SNPs were in states A, D or E, or with a paternal deletion if all SNPs were in states B, D or F.
PlatformNot reported
Comments
ReferenceConrad_et_al_2006
Pubmed ID16327808
Accession Number(s)dgv36n17
Frequency
Sample Size60
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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