A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2677599

Internal ID9597018
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77828815..77830733hg38UCSC Ensembl
chr14:78295158..78297076hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6476801, essv6090102, essv5587266, essv5493555, essv5858612, essv5472146, essv6499084, essv6145640, essv6560301, essv5763068, essv6172070, essv5679827, essv5691067, essv5436379, essv6027544, essv5751271, essv6424192, essv5841207, essv5708460, essv5554981, essv6173383, essv5741080, essv5975228, essv6010406, essv6557292, essv5703767, essv6173402, essv5933652, essv5745836, essv5543140, essv5964863, essv5840385, essv6348549, essv5399750, essv6020336, essv5446028, essv5405968, essv5906116, essv5819206, essv5993542, essv5399006, essv6442908, essv6072123, essv6318602, essv6301620, essv5973966, essv5852620, essv5932003, essv6220312, essv5705027, essv5617794, essv6453476, essv6358024, essv6161511, essv5563727, essv6287572
SamplesHG00152, HG00257, NA18616, NA18951, HG00344, HG00100, HG00274, HG00131, HG00261, NA18953, NA12828, NA18947, NA19782, HG00190, HG00122, NA20805, HG01461, NA07051, HG00177, NA18557, NA20521, HG00156, NA18626, HG01148, NA19059, NA19068, NA12155, NA18960, NA07357, HG01061, HG01124, NA12273, NA07048, HG00149, HG00338, NA11933, HG00178, NA20336, NA12144, NA07346, HG00732, NA12778, HG00325, NA12348, HG00185, HG00501, HG00478, HG00246, NA12283, HG00236, NA18987, HG00123, HG00320, NA18532, HG00271, NA19065
Known GenesADCK1
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2677599
Sample Size1151
Observed Gain0
Observed Loss56
Observed Complex0

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