A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657576



Internal ID9923681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33558662..33564775hg38UCSC Ensembl
chr13:34132799..34138912hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg386114
hg196114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv345e199
Supporting Variantsessv6403039, essv6088963, essv5512952, essv6050883, essv6378863, essv6142254, essv5422254, essv6064425, essv6589105, essv5638866, essv6363465, essv6019840, essv5923159, essv6319508, essv6015904, essv5840846, essv5546599, essv5472378
SamplesNA19703, NA19397, NA19359, NA19374, NA19457, NA19651, NA19385, NA19901, NA19462, NA19236, NA19982, NA19452, NA19469, NA19435, NA19470, NA19467, NA19818, NA19713
Known GenesSTARD13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657576
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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