A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657560



Internal ID9923665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:85666253..85666378hg38UCSC Ensembl
Outerchr2:85666216..85666428hg38UCSC Ensembl
Innerchr2:85893376..85893501hg19UCSC Ensembl
Outerchr2:85893339..85893551hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5735380, essv6465030, essv5869561, essv5688064, essv6525356, essv6576307, essv6488864
SamplesHG01173, HG01389, NA07347, HG01083, HG00320, NA20504, HG00319
Known GenesSFTPB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657560
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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