A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594114



Internal ID6634390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208368715..208383261hg38UCSC Ensembl
Innerchr2:208369215..208382761hg38UCSC Ensembl
Outerchr2:208367715..208384261hg38UCSC Ensembl
chr2:209233440..209247986hg19UCSC Ensembl
Innerchr2:209233940..209247486hg19UCSC Ensembl
Outerchr2:209232440..209248986hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3814547
hg1914547
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10833008, essv10833001, essv10833002, essv10832999, essv10833016, essv10833011, essv10833015, essv10832998, essv10833006, essv10833009, essv10832996, essv10833004, essv10833003, essv10833017, essv10833007, essv10833010, essv10833013, essv10832995, essv10833005, essv10833012, essv10833014, essv10832997, essv10833000
SamplesNA18502, HG02944, HG02496, HG03295, HG03479, HG03079, HG02634, HG03045, NA19235, HG02879, HG02977, HG03446, HG01956, NA20276, HG02546, HG01108, HG02970, HG02938, NA19096, NA19213, HG03376, NA18511, HG03118
Known GenesPTH2R
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594114
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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