Variant Details

Variant: esv2726873

Internal ID

9961181

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr1:245614493..245615508	hg38	UCSC Ensembl
Outer	chr1:245777795..245778810	hg19	UCSC Ensembl

Cytoband

1q44

Allele length

Assembly	Allele length
hg38	1016
hg19	1016

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6753680, essv6714444, essv6777129, essv6692999, essv6878531, essv6804583, essv6840149, essv6853546, essv6929275, essv6906317, essv6764322, essv6937875, essv6871880, essv6733636, essv6883407, essv6910260, essv6766702, essv6761977, essv6925868, essv6786421, essv6773645, essv6747952, essv6844052, essv6961871, essv6951995, essv6729824, essv6759222, essv6756692, essv6769728, essv6914150, essv6814487, essv6711931, essv6745105, essv6896003, essv6750331, essv6679381, essv6801786, essv6950767, essv6818309, essv6942018, essv6736144, essv6968158, essv6933517, essv6742314, essv6816842, essv6955077, essv6918496, essv6874874, essv6739010, essv6750769, essv6972719, essv6829188, essv6720409, essv6946687, essv6697176, essv6689446

Samples

SSM059, SSM036, SSM008, SSM027, SSM024, SSM064, SSM065, SSM087, SSM009, SSM073, SSM050, SSM074, SSM002, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM061, SSM029, SSM062, SSM026, SSM019, SSM003, SSM067, SSM001, SSM014, SSM033, SSM066, SSM006, SSM085, SSM081, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM037, SSM022, SSM010, SSM091, SSM055, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM049, SSM056, SSM063, SSM012

Known Genes

KIF26B

Method

Sequencing

Analysis

Breakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads

Platform

Illumina HiSeq 2000

Comments

Reference

Wong_et_al_2012b

Pubmed ID

23290073

Accession Number(s)

esv2726873

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	56
Observed Complex	0
Frequency	n/a