A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677197



Internal ID9596616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:72915787..72919793hg38UCSC Ensembl
Outerchr2:72915416..72920163hg38UCSC Ensembl
Innerchr2:73142916..73146922hg19UCSC Ensembl
Outerchr2:73142545..73147292hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg384748
hg194748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6027040, essv6593222, essv5485900, essv6593942, essv6124578, essv6209972, essv5797026, essv5981216, essv5432320, essv6275856, essv5781124, essv5396326, essv5658117, essv5550315, essv6462727, essv5403988, essv6388561, essv5593557, essv6234001, essv5605095, essv6395729, essv5739977, essv5495708, essv5931303, essv6414014, essv5520164, essv6340703, essv5912295, essv6495486, essv5679534, essv5533427, essv5535154, essv6356883, essv6565250, essv5627419, essv5972606, essv5839433, essv6301826, essv5425154, essv5739415, essv5987629, essv6116404, essv6175324, essv5865718
SamplesHG00181, HG00179, HG00337, HG00271, HG00272, HG00330, HG00346, HG00270, HG00185, HG00281, HG00277, HG00335, HG00325, HG00309, HG00182, HG00338, HG00326, HG00323, HG00313, HG00268, HG00266, HG00282, HG00344, HG00324, HG00284, HG00273, HG00373, HG00331, HG00321, HG00276, HG00336, HG00285, HG00353, HG00278, HG00319, HG00339, HG00312, HG00329, HG00342, HG00186, HG00280, HG00343, HG00274, HG00345
Known GenesEMX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677197
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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