A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661496



Internal ID9580915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2012130..2012308hg38UCSC Ensembl
Outerchr19:2011973..2012461hg38UCSC Ensembl
Innerchr19:2012129..2012307hg19UCSC Ensembl
Outerchr19:2011972..2012460hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5983441, essv6264992, essv6179130, essv6013584, essv5477423, essv6562964, essv6165483, essv5942417, essv6436320, essv6576789, essv6011239, essv6146325
SamplesNA20278, NA18523, NA18856, NA19700, NA19374, NA19373, NA19707, NA19462, NA19376, NA19391, NA19198, HG01108
Known GenesBTBD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661496
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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