A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761633



Internal ID10374431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23954373..24044708hg38UCSC Ensembl
Innerchr14:24423582..24513917hg19UCSC Ensembl
Innerchr14:23493422..23583757hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3890336
hg1990336
hg1890336
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv36e203
Supporting Variantsessv6998457, essv6998448, essv6998459, essv6998451, essv6998461, essv6998467, essv6998458, essv6998456, essv6998452, essv6998449, essv6998447, essv6998465, essv6998462, essv6998453, essv6998454, essv6998450, essv6998463, essv6998464, essv6998460
SamplesSW_1231, SW_0030, SW_0016, SW_1425, SW_1187, SW_1236, SW_1058, SW_0029, SW_1376, SW_0888, SW_1044, SW_1212, SW_1095, SW_0590, SW_1340, SW_0147, SW_0352, SW_1209, SW_0090
Known GenesDHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2761633
Frequency
Sample Size1109
Observed Gain3
Observed Loss16
Observed Complex0
Frequencyn/a


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