A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592750



Internal ID6633033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143210155..143210887hg38UCSC Ensembl
Innerchr2:143210182..143210860hg38UCSC Ensembl
Outerchr2:143210128..143210914hg38UCSC Ensembl
chr2:143967724..143968456hg19UCSC Ensembl
Innerchr2:143967751..143968429hg19UCSC Ensembl
Outerchr2:143967697..143968483hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38733
hg19733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10694995, essv10694997, essv10694993, essv10694991, essv10694996, essv10694992, essv10694989, essv10694990, essv10694994
SamplesHG01519, NA12286, HG02006, HG01049, HG00179, HG01305, NA20587, HG01069, HG01631
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592750
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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