A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664502



Internal ID9583921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107901176..108515447hg38UCSC Ensembl
Outerchr2:107901142..108515482hg38UCSC Ensembl
Innerchr2:108517632..109131903hg19UCSC Ensembl
Outerchr2:108517598..109131938hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38614341
hg19614341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv724e199
Supporting Variantsessv6313939
SamplesNA18985
Known GenesGCC2, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664502
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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