A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664479



Internal ID9583898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155874472..155875220hg38UCSC Ensembl
chr1:155844263..155845011hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38749
hg19749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5871515, essv6296150, essv5998237, essv5638799, essv5656943, essv5855729, essv5927981, essv6049486, essv6340725, essv5418182, essv6361111, essv5939771, essv6547983, essv6111259, essv5755596, essv5457465, essv5926509, essv5867498, essv5718524, essv6033664, essv5500465, essv6169128, essv6173199, essv5802430, essv5871653, essv5542337, essv5796766, essv6349166, essv6142094, essv5528194, essv6568545, essv6380338, essv5961686, essv6391058, essv6260123, essv6508503, essv6242534, essv5535475, essv5431106, essv6364405, essv6069778, essv5426752, essv6426589, essv5402831, essv5683665, essv6179853, essv5996754
SamplesNA20588, HG00114, HG00142, HG00361, HG00242, NA12273, HG00244, NA12751, NA12004, NA19377, HG00179, HG01051, HG00261, NA07357, HG00271, NA20795, HG00369, NA12761, NA19720, HG00148, HG01519, HG00236, HG00325, HG00262, HG00264, NA20753, HG00108, HG00260, HG00137, HG01136, HG00183, HG01171, NA12718, NA20770, HG00273, HG00331, HG00140, NA20542, NA12043, HG00357, NA20504, HG00256, NA12763, NA20510, NA19780, NA12890, NA12154
Known GenesSYT11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664479
Frequency
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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