A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6320267



Internal ID9297670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237756903..237757078hg38UCSC Ensembl
chr2:238665546..238665721hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664469
Supporting Variants
SamplesHG00704
Known GenesLRRFIP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6320267
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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