A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661052



Internal ID9580471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:38727576..38731182hg38UCSC Ensembl
Outerchr19:38727205..38731552hg38UCSC Ensembl
Innerchr19:39218216..39221822hg19UCSC Ensembl
Outerchr19:39217845..39222192hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg384348
hg194348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv641e199
Supporting Variantsessv6199935, essv6087544, essv5925330, essv5539038, essv6334844, essv5575093, essv5451631, essv6008902, essv5523924, essv6229311, essv5835926, essv5844232, essv5536778, essv5675168, essv5480043, essv5669551, essv6319581, essv5434831, essv5634753, essv6007631, essv5430602, essv6522514, essv6117082, essv6000164, essv6159009, essv5655440, essv5420173, essv6039030, essv5772943, essv6023924, essv5541986, essv5444571, essv5986424, essv5774743, essv5548023, essv6551004
SamplesHG00114, HG00249, HG00257, HG00244, HG00150, HG00261, HG00251, HG00122, HG00247, HG00243, HG00158, HG00106, HG00156, HG00232, HG00253, HG00264, HG00260, HG00137, HG00154, HG00149, HG00263, HG00239, HG00250, HG00140, HG00141, HG00246, HG00258, HG00254, HG00136, HG00237, HG00256, HG00111, HG00259, HG00112, HG00131, HG00252
Known GenesACTN4, CAPN12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661052
Frequency
Sample Size1151
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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