A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587642



Internal ID6627943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156809777..156810930hg38UCSC Ensembl
Innerchr1:156809777..156810930hg38UCSC Ensembl
Outerchr1:156809620..156810974hg38UCSC Ensembl
chr1:156779569..156780722hg19UCSC Ensembl
Innerchr1:156779569..156780722hg19UCSC Ensembl
Outerchr1:156779412..156780766hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381154
hg191154
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10153595
SamplesHG02111
Known GenesSH2D2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587642
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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